Posts Tagged ‘Dementia’

National Alzheimer’s Plan Launched

Monday, May 21st, 2012

President Barack Obama has thrown down the gauntlet in announcing the first National Alzheimer’s Plan, which sets a deadline of 2025 to find ways to effectively treat — or at least delay — the mind-destroying disease.  The Obama administration is laying out numerous steps the government and private partners can take over the coming years to fight what is poised to become a defining disease of the rapidly aging population.  Families and caregivers with a family member suffering from Alzheimer’s can visit a new website for information about dementia and where to get help in their own communities.

The National Institutes of Health (NIH) is funding new studies of possible therapies, including a form of insulin that is shot into the nose.  “These actions are the cornerstones of an historic effort to fight Alzheimer’s disease,” Health and Human Services Secretary Kathleen Sebelius said.

The National Alzheimer’s Plan comes as leading scientists and researchers are meeting at the NIH to debate what research needs to be prioritize to meet that 2025 deadline.  According to the researchers, the time is right to begin testing potential therapies before people have full-blown Alzheimer’s symptoms, when it may be too late to help.  “There’s a sense of optimism” as a result of some new discoveries, Dr. Francis Collins, director of the National Institutes of Health, said.  But, “we need to figure out exactly where is the best window of opportunity” to battle Alzheimer’s.  Collins noted that cardiologists don’t test cholesterol-reducing drugs on people who have advanced heart failure.

The research is being funded by grants of $16 million and $7.9 million respectively. Experts predict that unless more effective drugs are developed, the number of Americans with Alzheimer’s will double by 2050 and related healthcare costs could soar to more than $1 trillion.  Alzheimer’s affects approximately 5.1 million Americans today; current treatments address symptoms, but do not prevent the disease or halt its progression.

The 2025 goal was the subject of a long debate in the advisory council tasked with helping to write the national plan.  “We had people saying it was overly ambitious and we had people who said it wasn’t ambitious enough,” said Don Moulds, principal deputy assistant secretary for planning and evaluation at HHS.  According to Moulds, some were concerned that an earlier goal might skew research funding into treatments that might be easy hits, but not game-changing treatments.  The 2025 target was deemed to be the earliest date when an effective treatment could be found.  “It’s a huge initiative and a very ambitious step in the right direction,” Moulds said.

Researchers leading the largest clinical study ever done on Alzheimer’s disease have run into an unexpected hurdle.  With nearly 500 patients undergoing MRI scans, PET scans and even spinal taps, researchers hope to invent the first ever test to find Alzheimer’s before a patient loses any memory — or even knows there’s a problem.  “We may be able to screen and begin treatment even before any symptoms begin,” said Dr. Raymond Turner of Georgetown University Hospital, which is one of 57 centers participating in the study.

“The problem is finding volunteers to join the studies,” Turner said.  “Patients.”  The study of 750 patients is 250 patients short.  Nationally, the deficit is in the thousands, with virtually every clinical trial related to Alzheimer’s short of volunteers.  Alzheimer’s itself is part of the problem.  Patients who don’t know that they have the disease don’t know to volunteer, and patients with mild memory loss are often reluctant to participate.  The lead researcher of the imaging trial, Dr. Michael Weiner, says one answer is to recruit physicians who treat Alzheimer’s patients.  “We definitely could do a better job trying to get physicians to refer patients to our project,” Weiner said.  “The slower our trial goes, the slower the rate of progress.”

Eric J. Hall, president and CEO of the Alzheimer’s Foundation of America (AFA), “This day has been a long time coming. The release of the ‘National Plan To Address Alzheimer’s Disease’ reflects the growing impetus among the public and policymakers to act on a disease that has been in the shadows for far too long.  We commend President Obama, HHS Secretary Kathleen Sebelius and Congress for uniquely recognizing and responding to the implications of the Alzheimer’s Disease epidemic.  Recognition is essential for action, and their courage has forged enormous opportunity.

Physician, Patient Must Share in Decision Making

Monday, March 12th, 2012

Heart devices save lives, but too often make the patient miserable.  That unpleasant possibility is why physicians are being urged to talk more honestly with people who have very weak hearts and are considering pumps, pacemakers, new valves or procedures to clear clogged arteries.  Patients with advanced heart failure often don’t realize what they are getting into when they agree to a treatment, and doctors assume they want everything possible done to keep them alive, according to the American Heart Association. The directive recommends shared decision making when patients face chronic conditions that frequently prove fatal; they need to decide what they really want for their remaining days.  If they also have dementia or kidney failure, the answer may not be a heart device.

“Patients may feel that the treatment was worse than the disease,” said Dr. Larry Allen of the University of Colorado Anschutz Medical Center, who helped draft the new advice. One of Dr. Allen’s former patients was a 74-year-old man too weak to shop or take walks.  He was so despondent that physicians thought he would feel better with a “mini artificial heart” — a $100,000 left ventricular assist device to improve his heart’s ability to pump blood.  “Even if it goes well, people are left with an electrical cord coming out of their belly” and a higher risk of stroke and bleeding from the nose or throat, Allen said.

More than five million Americans suffer heart failure, and the number is increasing as the population ages.  More and more high-tech treatments treat advanced disease, but they usually don’t slow its progression, they just keep people alive.  And that means living longer with symptoms that do nothing but worsen.  Patients typically don’t understand the repercussions when they agree to gadgets like a $30,000 to $50,000 implanted defibrillator, which shocks a quivering heart back into normal rhythm.  “Defibrillators don’t actually make people feel better — it doesn’t treat the underlying heart failure.  All it does is abort sudden death,” Allen said.

Allen and other physicians involved in the study stressed the importance of building a patient-doctor consensus with respect to questions of survival, symptom relief and quality of life issues.  Depending on their personal situation, not all patients want to “do everything” at all costs.  One way to facilitate such a discussion, according to the authors, is to reserve one day a year to review the patient’s situation, focusing on prognosis and possible treatments alongside an appreciation for the patient’s values and goals.  This annual review is not intended to replace appropriate discussions about the patient’s ongoing care, such as when a turn for the worse or hospitalization occurs.  “The process of checking in with patients on a regular basis is extremely important because heart failure and general health change over time,” Allen said.

Shared decision making goes beyond informed consent, requiring that healthcare providers and patients consider information together and work toward consensus.  This process should focus on the outcomes that are most important to the patients, including not only survival but also relief of symptoms, quality of life and living at home.  “For patients with advanced heart failure, the decision-making process should be proactive, anticipatory, and patient-centered. This involves talking about goals of care, expectations for the future, and the full range treatment options, including palliative care,” according to Dr. Allen.

Because the time required for shared decision making is tricky to fit into a regular clinic visit, the authors suggest a yearly review to discuss prognosis, consider realistic therapies, and spell out the patient’s values, goals and preferences.  This review is in addition to discussions triggered by events such as hospitalizations and other changes in the patient’s health.  “The process of checking in with patients on a regular basis is extremely important because heart failure and general health change over time,” Dr. Allen said.

Heart failure typically progresses with time.  During the early stages, it can often be managed with medicines and lifestyle changes in diet, stopping smoking and exercise.  Advanced heart failure requires additional treatments, including heart transplantation.  A focus of the decision making process is understanding that “doing everything” is not always the best thing.  For many patients with advanced disease, receiving symptom relief, comfort, and support and medical therapy are preferred.

New HHS Program Seeks to Cure Alzheimer’s in 13 Years

Monday, February 13th, 2012

A national Alzheimer’s disease advisory council has set  preliminary goals and  recommendations for a national strategic plan to slow — or even bring to an end to — the expected rise in new cases as the baby boomer generation ages. The plan’s goal is to prevent and successfully treat the disease as soon as 2025. The objectives include enhancing care quality and efficiency, expanding patient and family support, enhancing public awareness and engagement, and improving data to track disease progress.

The plan is part of the National Alzheimer’s Project Act that was signed into law on recently by President Barack Obama. The law created the Advisory Council on Alzheimer’s Research, Care, and Services. The new law requires the secretary of the Department of Health and Human Services (HHS) and the advisory council to create and maintain a national plan to defeat Alzheimer’s.  Members of the council’s subgroups on long-term services and supports (LTSS), clinical care, and research are meeting to comment on and provide recommendations to formulate the plan’s draft framework.

The council’s members support alternatives to Medicare coverage and physician reimbursement to encourage the diagnosis of Alzheimer’s and provide care planning to individuals diagnosed with the disease and their caregivers. Additionally, quality indicators for the care and treatment of individuals with Alzheimer’s need to be formulated. The group proposed medical home pilot projects specifically designed to improve medical management for Alzheimer’s patients using grants from the Center for Medicare and Medicaid Innovation (CMMI).

More than five million Americans have been diagnosed with Alzheimer’s, a brain disease that causes dementia and affects primarily elderly people.  Some experts estimate that treating the disease costs the United States more than $170 billion annually.  Australia, France and South Korea already have comprehensive Alzheimer’s plans, and worldwide experts have been urging the United States to assume a leadership role.

“We want to demonstrate that as a country we are committed to addressing this issue,” Dr. Howard Koh, assistant secretary for health at HHS, said.  “We know the projected number of patients is expected to rise in the future.  We know there are far too many patients who are suffering from this devastating condition and it is affecting them and their caregivers,” Koh said.

Other experts believe that the 2025 deadline is too close and unrealistic.  “No one set a deadline for the ‘War on cancer’ or in the fight against HIV/AIDS.  We make progress and we keep fighting.  The same should be true for Alzheimer’s,” said Dr. Sam Gandy, an Alzheimer’s researcher at Mount Sinai School of Medicine.  “In my mind, that provides the unfortunate sense that we will have ‘failed’ if we don’t have a cure by 2025.”  The National Alzheimer’s Project Act provides no new funding for research.  Although some drug companies have compounds in clinical trials, researchers say they are just beginning to understand the complex disease, which develops without any symptoms for 15 to 20 years before any memory problems begin to show.  “This means that if we had, today, already in hand, the funding, recruitment and the perfect drug, the trial would still take 15 to 20 years,” Gandy said.

According to P.J. Skerrett, Editor of Harvard Health, “Like a powerful wave, the Alzheimer’s epidemic is expected to crest in 2050. At that time an estimated 16 million Americans will be living with this mind-robbing disease. (About 5.4 million Americans have Alzheimer’s Disease today.)  In an effort to head off the explosion, President Obama has signed into law the National Alzheimer’s Project Act.

This ambitious project aims to attack Alzheimer’s on several fronts:

  • Improving early diagnosis.  The brain changes that lead to Alzheimer’s disease probably begin years before memory loss and other problems appear. Earlier diagnosis could help families better plan for the future, and could be especially important if better treatments become available.
  • Finding effective prevention and treatment strategies.  Today’s treatments relieve symptoms for only a short time; none prevent or stop Alzheimer’s-related mental decline. New treatments that are more durable would be a huge boon to current and future Alzheimer’s sufferers.
  • Providing more family support.  Spouses and adult children are the primary caregivers for many people with Alzheimer’s disease. The day-to-day challenges of caring for someone with Alzheimer’s can be daunting. Many caregivers have no training and don’t know what resources are available to them. The project would provide better education and support for caregivers.” Skerrett said.

Mental Faculties Can Decline as Young as Age 45

Monday, January 23rd, 2012

An intensive new study has found that memory, reasoning and comprehension can start to decline as early as age 45. This finding runs counter to conventional wisdom that mental decline typically begins after the age of 60, according to the researchers “Cognitive function in normal, healthy adults begins to decline earlier than previously thought,” said study author Archana Singh-Manoux.  “It is widely believed that cognitive ability does not decline before the age of 60.  We were able to show robust cognitive decline even in individuals aged 45 to 49 years,” added Singh-Manoux, research director at INSERM’s Center for Research in Epidemiology & Population Health at the Paul-Brousse Hospital in Paris.

“These findings should be considered in the context of the link between cognitive function and dementia,” Singh-Manoux said.  “Earlier research shows small differences in cognitive performance at a young age to predict larger differences in risk of dementia in later life.  A thorough understanding of cognitive aging might make it easier to identify those at risk for dementia earlier in life,” she said.

Men aged 45 to 49 saw their reasoning skills decrease by nearly four percent; those aged between 65 and 70 saw their skills drop by about nearly 10 percent.  For women, the decline in reasoning neared five percent for those aged 45 to 49 and about seven percent for those 65 to 70, according to the research.

The study’s results are being published in the journal BMJ (formerly called the British Medical Journal). They demonstrate that the average, performance on cognition tasks deteriorated as the subjects aged. The declines were the most obvious among the oldest participants, who were aged 65-70 at the beginning of the 10-year study that began in 1997-99.

In conducting the study, researchers tracked the mental function of more than 7,000 British civil servants for 10 years.  They found that even the youngest participants, who were between the ages of 45 and 49 when the study began, showed slight yet measurable declines in short-term memory, mental reasoning, and verbal facility over the course of the study.  The declines were too small to be noticed in daily life and were detected only through tests the researchers gave the participants every three to four years.  But the findings may have implications for the prevention of dementia, and underscore the importance of taking care of our bodies and minds early in life, the researchers say.

“We, and others, have shown healthy lifestyles and good cardiovascular health to be important for cognitive outcomes,” Singh-Manoux said. “The fact that cognition declines early implies that midlife levels of these factors — health behaviors and cardiovascular risk factors and disease — might be important for cognitive outcomes later in life.”

Researchers haven’t decisively proven that cognitive decline in middle age is a  predictor of Alzheimer’s or other dementias; however, the evidence suggests that small changes in midlife mental function can become magnified later in life, says Francine Grodstein, Sc.D., an epidemiologist and associate professor of medicine at Brigham and Women’s Hospital, in Boston.  “There is a lot of evidence that (people) with cognitive decline are at highest risk of later developing dementia, so it is likely that preventing or delaying cognitive decline today will help reduce risk of dementia tomorrow,” said Grodstein, who wrote an editorial that accompanied the study.

“On an individual level this doesn’t mean very much — it certainly doesn’t mean that we’re seeing a lot of people with dementia in their 40s.  We know that’s not true,” Grodstein said.

Brain Scans a Tool In Early Alzheimer’s Detection

Tuesday, January 3rd, 2012

Researchers believe they can see revealing brain shrinkage years before a person develops memory loss or other symptoms of Alzheimer’s disease. The new finding may ultimately let physicians detect the disease and treat patients earlier with the goal of keeping them functional longer.

Massachusetts General Hospital and the University of Pennsylvania researchers used magnetic resonance imaging (MRI) scans to measure how thick the brain’s outer layer is in 159 people who did not suffer from memory loss.  Earlier studies have linked Alzheimer’s disease with distinctive shrinkage in nine regions of the brain’s gray matter, or cerebral cortex.  This is what physicians call the “Alzheimer’s signature.”

According to researchers, the brain shrinks as it loses nerve cells – more commonly known as neurons.  They aren’t entirely sure what causes this.  One theory is that the cells die after they become choked by excess amounts of two kinds of protein — beta amyloid and tau.  “The neurons degenerating over time are really what we think causes the shrinkage,” said researcher Brad Dickerson, M.D., an associate professor of neurology at Harvard Medical School and director of the frontotemporal disorders unit at Massachusetts General Hospital.  “And that shrinkage in their size is something you can measure with an MRI scan.”

Alzheimer’s is the sixth leading cause of death in the United States, according to the Alzheimer’s Association.  The number of deaths has increased in recent years, and there is no cure.  In the new study, researchers focused on how thick the edges of the brain are.  “We’re looking at the parts of the cortex that are particularly vulnerable to Alzheimer’s disease, parts that are important for memory, problem-solving skills and higher-language functions,” Dickerson said.

The 15 percent of participants – who averaged 76 years old –who had the thinnest brain areas performed poorly on the tests: About one in five of them were experiencing cognitive decline, as well as increases in signs of abnormal spinal fluid, a possible sign of developing Alzheimer’s disease.  “That suggests they may be developing symptoms,” according to Dickerson.

Susan Resnick, PhD, who works at the National Institute of Aging, wrote:  “The ability to identify people who are not showing memory problems and other symptoms but may be at a higher risk for cognitive decline is a very important step toward developing new ways for doctors to detect Alzheimer’s disease.”

Dr. Simon Ridley, from the charity Alzheimer’s Research UK, said, “The ability to predict who will develop Alzheimer’s disease is a key target for dementia research, as it would allow new treatments to be tried early, when they are more likely to be effective.  These findings add weight to existing evidence that Alzheimer’s begins long before symptoms appear, although it’s important to note that the study did not assess who went on to develop the disease.  This research provides a potential new avenue to follow, but we need to see larger and longer-term studies before we can know whether this type of brain scan could accurately predict Alzheimer’s.”

Writing in Time, Alice Park notes that “Alzheimer’s disease has always been difficult to diagnose — the only way to identify it definitively is by autopsying the brain after death — but scientists may now have an easier way to spot the degenerative brain disease long before that, even before symptoms appear, using brain scans.  By studying people’s brain scans over time, they were able to see that these nine brain regions appear to be thinner in people who eventually go on to develop Alzheimer’s — but that it takes many years for this structural difference to show up as symptoms of memory loss or cognitive problems.  Using this brain-size signature as a yardstick, the researchers decided to confirm the correlation by testing the patients’ cognitive abilities three years after a baseline brain scan.  Indeed, they found that 21 percent of participants, who had the thinnest Alzheimer’s-related brain regions but showed no signs of memory problems or other cognitive deficits at the start of the study did show signs of cognitive decline three years later, compared with none of the subjects who did not have the same brain thinning and seven percent who showed moderately thinner brain areas.”

90-Year-Olds Growing in Numbers

Tuesday, November 29th, 2011

Is 90 the new 85? The number of Americans over the age of 90 has skyrocketed from 720,000 in the year 1980 to more than 1.9 million in 2010, according to the Census Bureau, which notes that “over the next four decades, this population is projected to more than quadruple.”  Driven by improvements in healthcare, the trend presents challenges.  The Census Bureau notes that “a nation’s oldest-old population consumes resources disproportionately to its overall population size, and its growth has a significant impact on societal and family resources, including pension and retirement income, healthcare costs, and intergenerational relationships.”

According to the study, “People at very old ages are also expected to live longer.  Today a person 90 years of age is expected to live on average another 4.6 years (versus 3.2 years in 1929–1931), and those who pass the century mark are projected to live another 2.3 years.  Women aged 90+ outnumber 90+ men nearly 3 to 1.”

The downside is that people aged 90-plus are more likely to live in poverty or have disabilities, creating a new challenge to already strained retiree income and healthcare programs.

Richard Suzman, director of behavioral and social research at the National Institute on Aging, said “A key issue for this population will be whether disability rates can be reduced.  We’ve seen to some extent that disabilities can be reduced with lifestyle improvements, diet and exercise.  But it becomes more important to find ways to delay, prevent or treat conditions such as Alzheimer’s disease.”

“Given its rapid growth, the 90-and-older population merits a closer look,” said Wan He, a Census Bureau demographer and one of the report’s authors.  “The older people get, the more resources they consume because of healthcare, and disability rates significantly increase.  This creates demands for daily care, and for families the care burden increases dramatically.”

People in this demographic are more likely to have at least one disability, live alone or live in a nursing home.  They’re also more likely to be female, because women typically are longer-lived than men, and are likely to be poor.  “But increasingly people are living longer and the older population itself is getting older.  Given its rapid growth, the 90-and-older population merits a closer look.  The implications for the family and our society of this growing population are likely to be significant,” according to the authors.

The poverty issue cannot be understated because it becomes more likely as a person ages.  From 2006 to 2008, 14.5 percent of people 90 and older lived in poverty, drastically more than the 9.6 percent of those 65 to 89 who were considered poor.  The annual median income for people aged 90 and older was $14,760, as measured in inflation adjusted dollars.  Nearly half of that income — 47.9 percent — came from Social Security, and 18.3 percent came from retirement pensions.  Fully 92.3 percent of those 90 and older received Social Security income.

And where do these nonagenarians live? According to Census figures, smaller states had the highest shares of their older Americans who were at least 90.  North Dakota had approximately seven percent of its 65-plus population older than 90.  It was followed by Connecticut, Iowa and South Dakota.  When considering absolute numbers, the retirement havens of California, Florida and Texas led the nation in the 90-plus population, each with more than 130,000.

By 2050 – just 39 years from now – the number of Americans 90 or older could total nine million. “I think it’s going to grow even faster than predicted in the report,” Suzman said.  Someone who lives to 90 today is likely to live almost another five years, the study noted.  Additionally, a person who lives to celebrate a 100th birthday is likely to live another 2.3 years.  Women aged 90 and older outnumbered men by 3 to 1, according to the study.  Nearly 80 percent of those women are widows, while more than 40 percent of the men are married.

Edmund H. Duthie, a professor of medicine and chief of the division of geriatrics and gerontology at the Medical College of Wisconsin, said the census numbers point to a sobering fact: Retirement may be longer than people expect.  “Are you going to outlive whatever you put aside?”  Duthie said.  “Most people wouldn’t think that if you retired at 60, you may have a third of your life to live.”  Duthie said it was unclear how the nation’s obesity epidemic might affect longevity as well as chronic illness.  America, he said, remains concerned with rates of dementia and how society will cope with the problem.  “The science base of what we do with the oldest old is something that we’re lacking,” he said.  “We can measure cholesterol and blood pressure, but what does it mean in a 90-year-old?  We need to be enrolling these oldest old in studies to understand more about what to do.”

When It’s Not Just a “Senior Moment”

Tuesday, November 15th, 2011

The British government has embarked on an ad campaign encouraging early diagnosis of Alzheimer’s Disease.  Experts believe there is a time when people come to the realization that a family member may have a memory problem.  As a result, they are being warned to act and seek help from the Department of Health (DH), which is launching a campaign on the issue.  In the ad campaign, the government tells the story of a man in the early stages of dementia, and his daughter, who senses that she is losing her father.  It highlights the importance of contacting a primary-care physician if you have symptoms like memory loss, confusion and anxiety.  “People are afraid of dementia,” said care services minister Paul Burstow.

According to Alzheimer’s patient Derek Wilson: ”I knew that there was something wrong with me.  Rather than face the possibility someone we love has the condition, we can wrongly put memory problems down to ‘senior moments’,” he said.  “Don’t wait until a crisis.  Being diagnosed with dementia won’t make the condition worse, but leaving it untreated will.”

Approximately 820,000 Britons have Alzheimer’s, out of a population of roughly 62 millionIt is estimated that six out of 10 people with dementia have not been diagnosed in the United Kingdom. In other words, nearly 400,000 people could need help from the National Health Service (NHS) and are not getting it.  According to Burstow, “But if we are worried, the sooner we discuss it and help the person seek support the better.  Don’t wait until a crisis.  Being diagnosed with dementia won’t make the condition worse but leaving it untreated will.”

Family members typically first notice problems when they visit relatives over Christmas, prompting a big increase in calls to the Alzheimer’s Society’s helpline. Last January it had a 43 percent increase, chief executive Jeremy Hughes said.  “It’s when you see someone you perhaps haven’t seen for a while that you can see the difference.  If their memory is going, if they’re getting confused, if they have sudden mood changes, that’s the time to say ‘maybe you should see your doctor’.”

The £2 million campaign is print, television and radio.  According to DH estimates, every general hospital has cost overruns of £6 million because of dementia, a result of the worse outcomes for length of stay, mortality and institutionalization. Better management of patients with hip fractures who also have dementia could save between £64 million and £102 million in England every year.  Professor Alistair Burns, national clinical director for dementia at the DH, said.  “Timely early diagnosis and supportive interventions allow people to plan for the future while they still can.  They have been shown to reduce care home admissions and improve the quality, not only of the life of the person with dementia, but also their family, caregivers and friends.”

Dr. Simon Ridley, head of research at Alzheimer’s Research UK, agreed that the ability to diagnose dementia is ‘crucial’ to providing effective treatment.  According to Ridley, “Although people may be fearful of the worst, a diagnosis can empower them to access the right treatments and support to preserve independence.”

ALS Breakthrough Research Could Lead to a Cure

Wednesday, August 31st, 2011

Researchers appear to have discovered the cause of amyotrophic lateral sclerosis (ALS),  commonly known as Lou Gehrig’s disease.  The discovery has the potential to lead to an effective treatment to the progressive, fatal disease.  According to Dr. Teepu Siddique, a neuroscientist at Northwestern University’s Feinberg School of Medicine, the key was discovering an underlying disease process for all types of ALS.  The breakthrough also could play a role in creating effective treatments for other neurodegenerative diseases such as Alzheimer’s, dementia and Parkinson’s, Siddique said.  The Northwestern research team said that the breakdown of cellular recycling systems in the neurons of the spinal cord and brain of ALS patients results in the nervous system gradually losing its ability to carry brain signals to the body’s muscular system.  When these signals are absent, patients are increasingly unable to move, talk, swallow or breathe. 

“This is the first time we could connect (ALS) to a clear-cut biomedical mechanism,” Siddique said. “It has really made the direction we have to take very clear and sharp.  We can now test for drugs that would regulate this protein pathway or optimize it, so it functions as it should in a normal state.”  The breakthrough was announced in the research journal Nature.  Approximately 30,000 Americans have ALS – a total of 350,000 patients across the globe.  With no known treatment, half of all ALS patients die within three years.  New York Yankee baseball star Lou Gehrig died in 1941 at the age of 37 of the disease that today bears his name. 

Mutations in a single gene known as UBQLN2  cause inherited forms of ALS and ALS with dementia, probably through defective degradation of abnormal protein clumps.  Even patients who did not have the UBQLN2 mutation had features of the disrupted pathway, suggesting that it is a “common pathological feature in a wide spectrum of ALS and ALS/dementia,” according to Dr. Siddique.  “These data provide robust evidence for an impairment of protein turnover in the pathogenesis of ALS and ALS/dementia, and possibly other neurodegenerative disorders, as well.  These pathways should provide novel molecular targets for the design of rational therapies for these disorders.” 

“The exact function of ubiquilin 2 is not well understood,” Siddique said.  “However, there is increasing evidence that ubiquilins, together with their interactions with other proteins, may be involved in neurodegenerative disorders.”  Siddique and his research team looked for other UBQLN2 mutations in 188 members of families with a history of ALS or ALS with dementia.  This work led to the identification of four additional mutations, none of which was present in a mutation database or in 928 control samples.

 Only 10 percent of ALS patients have the inherited form of the disease.  Because no cause had been identified for those who lack a family history, researchers have been uncertain about whether different forms of ALS were actually the same disease.  Siddique and his research team found that in people with and without inherited ALS, the disease results from the inability of a protein system to repair the nerve cells that tell the muscles what to do.  For ALS patients, ubiquilin2 does not do this effectively, leading to an accumulation of the damaged proteins and ubiquilin2 in vital nerve cells in the spinal cord and brain.  As seen through a microscope, the protein accumulations look like twisted balls of yarn, a hallmark of ALS.  “Abnormality in protein degradation has been suspected, but there was little direct evidence before this study,” said study co-author Han-Xiang Deng, M.D.  “This moves the field forward in an impressive way, but like many breakthroughs, many questions remain to be answered.”

Amelie Gubitz,  a research program director at the National Institute of Neurological Disorders and Stroke, said the study marks an important step forward.  “You need to understand at the cellular level what is going wrong,” Gubitz said.  “Then you can begin to design drugs.” 

Siddique, who has spent more than 25 years researching the causes and underlying mechanisms of ALS, said he was fascinated by the subject because “It was one of the most difficult problems in neurology and the most devastating, a disease without any treatment or known cause.  These people in the prime of their lives and the peak of their productivity get this devastating illness that kills them.  The people who get ALS/dementia, an even more vicious disease, have a double whammy.”

Poor Education Can Lead to Alzheimer’s

Monday, August 8th, 2011

As many as 50 percent of Alzheimer’s cases worldwide could be avoided if risk factors such as depression, obesity and smoking were eliminated, either with lifestyle changes or treatment of underlying conditions.  Even modest cuts in the level of risk factors could prevent millions of cases of the memory-robbing illness, the researchers said.  As an example, a 25 percent cut in seven common risk factors – such as poor education, obesity and smoking — could prevent as many as three million Alzheimer’s cases around the world and up to half a million in the United States alone.  The new research is being presented at the Alzheimer’s Association International Conference (AAIC) and published online in The Lancet Neurology.

“The idea here is to get a better bead on exactly how we can start untangling what the risk factors are, so that we can not only treat and modify Alzheimer’s but also start talking about prevention of Alzheimer’s,” said Mark Mapstone, associate professor of neurology at the University of Rochester Medical Center.  “The field is working very hard (to figure out) what these risk factors are so we can start heading this disease off before it starts.”

Led by Deborah Barnes of the University of California San Francisco (UCSF), the researchers revisited earlier epidemiological studies on links between Alzheimer’s and seven vital risk factors: poor education, smoking, low physical activity, depression, hypertension during mid-life, obesity and diabetes.  They estimated that these risk factors account for 17 million cases of Alzheimer’s worldwide (approximately half of the estimated 34 million cases of dementia globally) and three million of the 5.3 million estimated cases in the United States.  Some factors appeared to have a greater impact on Alzheimer’s risk than others.  The UCSF team estimated that worldwide, 19 percent of Alzheimer’s cases can be attributed to low education; 14 percent to smoking; 13 percent to physical inactivity; 10 percent to depression; five percent to mid-life hypertension; 2.4 percent to diabetes; and two percent to obesity.  In the United States, more than 20 percent of cases can be traced to low physical activity; 15 percent to depression; 11 percent to smoking; eight percent to mid-life hypertension; seven percent to mid-life obesity; seven percent to low education and three percent to diabetes.

Dr. Ronald Petersen of the Mayo Clinic said the findings have important public-health implications and will help raise awareness of the need for prevention.  The study offers “an uplifting message for aging and cognition,” he said, insofar as it suggests that lifestyle factors can be modified to alter Alzheimer’s risk, at least at the societal level.  But, with the exception of increasing physical activity, there is scant evidence that interventions are successful in altering an individual’s chances of developing Alzheimer’s.

Other studies have shown that increasing physical activity is effective.  But whether taking up crossword puzzles or losing weight impacts the path of Alzheimer’s — the pathology of which seems to begin years before symptoms appear — remains unknown.  Last year, a National Institutes of Health panel concluded – with some controversy — that the scientific evidence on lifestyle factors was negligible and said that intervention is helpful.  Petersen said that, while depression is clearly associated with Alzheimer’s, the causal direction could go either way, especially when the depression comes late in life.  “Is that really a risk factor for, or a function of, the disease?” he asked.  The question is, for the most part, irrelevant from a clinical perspective because depression should be treated anyway, Petersen said.

“Education, even at a young age, starts to build your neural networks,” so being deprived of it means poorer brain development, Barnes said.

“It gives us a little bit of hope about things we could do now about the epidemic that is coming our way.”  Alzheimer’s cases are expected to triple by 2050, to approximately 106 million globally.  “What’s exciting is that this suggests that some very simple lifestyle changes, such as increasing physical activity and quitting smoking, could have a tremendous impact on preventing Alzheimer’s and other dementias in the United States and worldwide,” Dr Barnes said.

The study could be good news for people – usually family members – who are caregivers for individuals with Alzheimer’s. “Throughout the progression, I felt quite helpless…without any cure for (Alzheimer’s disease) yet, I could only watch,” said Rick Lauber, who acted as caregiver to his father, John, who developed the disease in his 60s and died at age 76.  As his father’s caregiver, Lauber had to take on unexpected responsibilities, such as moving him three times, taking him to doctor’s appointments, paying bills and becoming his father’s Joint Guardian and Alternate Trustee.  “As an adult child and a family caregiver, caring for Dad had to one of the hardest things imaginable,” Rick Lauber said.  “Watching him decline from a healthy, active, respected academic to a shell of a man was very challenging.  Dad was changing before my eyes and I could not do anything about this.”

According to the 2011 annual Facts and Figures release from the Alzheimer’s Association, nearly 15 million Americans provide 17 billion hours of unpaid care worth $202 billion every year.

This blog is dedicated to the memory of William A. Alter, the founder of our company who passed away August 8, 2008 of complications of Alzheimer’s disease.  To read about Bill Alter’s amazing career, please click here.

Revised Alzheimer’s Guidelines Help Us Catch It In Time

Wednesday, May 4th, 2011

Will revised guidelines for Alzheimer’s disease diagnosis help physicians identify the illness sooner than was previously possible?  For the first time in 30 years, scientists have created guidelines to advance the diagnosis of Alzheimer’s disease and help doctors identify the earliest signs of the degenerative condition, even before memory loss begins with the goal of helping patients prepare early, and eventually treat, the disease.

The National Institute on Aging/Alzheimer’s Association Diagnostic Guidelines for Alzheimer’s Disease outline new approaches and give scientists more advanced instructions for moving forward with research on diagnosis and treatments.  The revised guidelines also have the potential to more than double the number of people being diagnosed with Alzheimer’s in a given year.  “The new guidelines reflect today’s understanding on how key changes in the brain lead to Alzheimer’s disease, said Creighton Phelps of the National Institute of Health’s (NIH) National Institute on Aging.

Writing in Time, Alice Park says that “Currently, Alzheimer’s disease can be definitively diagnosed only at autopsy, when pathologists can confirm the presence of protein plaques and tangles in the brain of a patient who has shown signs of memory loss and cognitive deficits.  The new guidelines tease apart three different stages of the disease that are meant to help doctors better identify affected patients while they are alive.  The phases also reflect the latest research, which suggests that Alzheimer’s develops in the brain over a long period of time — perhaps years or even decades before the first cognitive deficits are noticeable.”

Approximately 5.4 million Americans have Alzheimer’s, which dims memory and other cognitive abilities.  People with Alzheimer’s can undergo dramatic personality changes and ultimately are confused, unable to take care of themselves or recognize family members.  An aging population equals more Alzheimer’s cases.  This has made it more important for scientists to develop early diagnosis and treatment tools, as well means to distinguish Alzheimer’s from other types of dementia.  “At this time, we don’t know enough to be able to advise patients properly about what their risk for later dementia might be,” said John C. Morris of the Washington University School of Medicine.  “Even if we do determine what that risk might be, we don’t have treatment to reduce that risk.”

In 1984, Alzheimer’s was diagnosed based on a single symptom – dementia. The updated guidelines reflect a more advanced understanding of the disease: Alzheimer’s can begin as many as 10 years before signs of dementia.  For clinicians, the guidelines reflect how many doctors already diagnose the disease.  For example, memory isn’t always the initial casualty; vision, literary skills and speech can decline while memory remains intact.  Although Alzheimer’s is unusual in people younger than 40, the disease progresses in the same way as a 90-year-old.  Testing for mutations in three genes can determine whether a patient has early onset of Alzheimer’s (though 10 related genes are known).

According to the new guidelines, Alzheimer’s is recognized as a continuum of stages: Alzheimer’s itself with clear symptoms; mild cognitive impairment (MCI) with mild symptoms; and also the “preclinical” stage, when there are no symptoms but when recognizable brain changes may already be occurring.  Additionally, the revised guidelines use what are known as biomarkers – as an example, the levels of certain proteins in blood or spinal fluid — to diagnose the disease and measure its progress.  “It will not change practice,” said Dr. Guy M. McKhann, one of the guideline authors.

Older adults with this impairment progress to dementia at a higher rate than those with no impairment, but progression is not inevitable,” according to the Alzheimer’s Association. “Not everyone diagnosed with MCI goes on to develop Alzheimer’s,” the association noted.

According to William Thies, chief medical and scientific officer of the Alzheimer’s Association, the new guidelines “will result in little change in current clinical practice of medicine as applied to Alzheimer’s disease.  The new criteria are really extending the range of our ability to investigate this disease and eventually to find treatments that will be so necessary to avoid the epidemic of Alzheimer’s that we see facing us.”